ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077689926
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1054Leu
CA382515520
NM_000051.4:c.3161C>T